Canonical Allele Identifier: CA1139211632
Gene: GYG2P1 HGNC NCBI

Linked Data

gnomAD v3: Y-12271966-C-G
gnomAD v4: Y-12271966-C-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.12271966C>G , CM000686.2:g.12271966C>G GRCh38
NC_000024.9:g.14392670C>G , CM000686.1:g.14392670C>G GRCh37
NC_000024.8:g.12902677C>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000651802.1:n.451-30558G>C
ENST00000651835.1:n.320-13935G>C
Search 100 bp 5'
Search 100 bp 3'